GRCh37/hg19 11p13(chr11:31820789-31824052)x1
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NM_001368894.2(PAX6):c.-128-2del
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rs1131692282
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NM_001368894.2(PAX6):c.-129+1G>A
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rs1565277245
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NM_001368894.2(PAX6):c.-129+2T>A
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rs878852979
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NM_001368894.2(PAX6):c.-138_-129+3del
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rs1592654547
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NM_001368894.2(PAX6):c.-52+1G>A
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rs1592614756
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NM_001368894.2(PAX6):c.-52+3_-52+4del
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rs1565264399
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NM_001368894.2(PAX6):c.-52+3_-52+6delinsTG
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rs1565264372
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NM_001368894.2(PAX6):c.-52+5del
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rs1565264387
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NM_001368894.2(PAX6):c.1018dup (p.Tyr340fs)
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NM_001368894.2(PAX6):c.1020_1021del (p.Tyr340_Ser341delinsTer)
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rs1592410582
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NM_001368894.2(PAX6):c.1052_1064dup (p.Leu355_Pro356insGlyLysTer)
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rs1592409736
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NM_001368894.2(PAX6):c.1058_1061del (p.Asn353fs)
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rs1592409876
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NM_001368894.2(PAX6):c.1072C>T (p.Gln358Ter)
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NM_001368894.2(PAX6):c.1074+1G>C
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rs1950507886
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NM_001368894.2(PAX6):c.1075-1G>A
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rs1592370265
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NM_001368894.2(PAX6):c.1075-2A>G
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rs794726661
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NM_001368894.2(PAX6):c.1079del (p.Pro360fs)
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rs1592370052
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NM_001368894.2(PAX6):c.107_114dup (p.Pro39fs)
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rs1592563333
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NM_001368894.2(PAX6):c.1086dup (p.Ser363fs)
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rs1592369895
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NM_001368894.2(PAX6):c.1089_1092del (p.Ser363fs)
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rs1131692317
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NM_001368894.2(PAX6):c.109dup (p.Ala37fs)
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rs1057517780
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NM_001368894.2(PAX6):c.11-218_565+80del
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NM_001368894.2(PAX6):c.11-2A>G
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rs1592564908
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NM_001368894.2(PAX6):c.1100C>G (p.Ser367Ter)
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rs121907915
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NM_001368894.2(PAX6):c.1103_1112del (p.Tyr368fs)
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rs1592369407
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NM_001368894.2(PAX6):c.1104C>G (p.Tyr368Ter)
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rs1592369500
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NM_001368894.2(PAX6):c.1119del (p.Thr374fs)
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rs864309681
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NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)
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rs397514640
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NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp)
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rs397514640
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NM_001368894.2(PAX6):c.112del (p.Arg38fs)
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rs1592563428
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NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter)
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rs1411880763
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NM_001368894.2(PAX6):c.113_114dup (p.Pro39fs)
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rs1565245598
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NM_001368894.2(PAX6):c.114_121del (p.Pro39fs)
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rs1554985737
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NM_001368894.2(PAX6):c.114dup (p.Pro39fs)
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rs1565245598
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NM_001368894.2(PAX6):c.115_116dup (p.Cys40fs)
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rs1592563240
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NM_001368894.2(PAX6):c.1202_1205del (p.Gly401fs)
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rs1592367623
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NM_001368894.2(PAX6):c.1211del (p.Gly404fs)
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rs1592367444
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NM_001368894.2(PAX6):c.121del (p.Asp41fs)
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rs1592563047
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NM_001368894.2(PAX6):c.1225+1G>A
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rs1554982537
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NM_001368894.2(PAX6):c.1225+2T>C
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rs1131692319
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NM_001368894.2(PAX6):c.1225G>C (p.Gly409Arg)
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rs1131692318
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NM_001368894.2(PAX6):c.1225G>T (p.Gly409Ter)
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rs1131692318
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NM_001368894.2(PAX6):c.125_126delinsC (p.Ile42fs)
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rs1131692287
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NM_001368894.2(PAX6):c.130C>T (p.Arg44Ter)
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rs141873759
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NM_001368894.2(PAX6):c.133_141+4del
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rs1554985709
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NM_001368894.2(PAX6):c.140A>C (p.Gln47Pro)
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rs1131692289
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NM_001368894.2(PAX6):c.140A>G (p.Gln47Arg)
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rs1131692289
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NM_001368894.2(PAX6):c.141+1G>C
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rs1554985714
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NM_001368894.2(PAX6):c.141+4A>T
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rs1131692290
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NM_001368894.2(PAX6):c.141G>T (p.Gln47His)
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rs2135147324
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NM_001368894.2(PAX6):c.184-1G>A
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rs1592546566
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NM_001368894.2(PAX6):c.184-1_195dup
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rs1592546340
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NM_001368894.2(PAX6):c.184-2A>G
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rs1592546589
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NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg)
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rs1131692293
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NM_001368894.2(PAX6):c.19G>T (p.Gly7Ter)
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rs1131692285
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NM_001368894.2(PAX6):c.1A>C (p.Met1Leu)
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rs1131692284
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NM_001368894.2(PAX6):c.1A>G (p.Met1Val)
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rs1131692284
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NM_001368894.2(PAX6):c.200T>G (p.Val67Gly)
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rs1592546273
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NM_001368894.2(PAX6):c.200_201del (p.Val67fs)
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NM_001368894.2(PAX6):c.205A>T (p.Lys69Ter)
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rs1592546120
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NM_001368894.2(PAX6):c.208del (p.Ile70fs)
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rs1592546024
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NM_001368894.2(PAX6):c.225C>G (p.Tyr75Ter)
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rs760490431
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NM_001368894.2(PAX6):c.226G>T (p.Glu76Ter)
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rs1131692295
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NM_001368894.2(PAX6):c.233G>T (p.Gly78Val)
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rs121907920
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NM_001368894.2(PAX6):c.246dup (p.Arg83fs)
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rs1592545392
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NM_001368894.2(PAX6):c.280_283dup (p.Pro95fs)
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rs1554985378
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NM_001368894.2(PAX6):c.286G>T (p.Glu96Ter)
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rs1131692296
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NM_001368894.2(PAX6):c.288dup (p.Val97fs)
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rs1592544553
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NM_001368894.2(PAX6):c.301del (p.Lys100_Ile101insTer)
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rs1592544327
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NM_001368894.2(PAX6):c.307C>T (p.Gln103Ter)
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rs1131692297
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NM_001368894.2(PAX6):c.323del (p.Cys108fs)
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rs1592543841
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NM_001368894.2(PAX6):c.328_337del (p.Ser110fs)
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rs1592543499
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NM_001368894.2(PAX6):c.333_336dup (p.Ala113fs)
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rs1131692298
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NM_001368894.2(PAX6):c.335_340delinsGTTCA (p.Phe112fs)
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rs1131692299
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NM_001368894.2(PAX6):c.341G>A (p.Trp114Ter)
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rs1554985320
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NM_001368894.2(PAX6):c.342G>A (p.Trp114Ter)
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rs1131692300
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NM_001368894.2(PAX6):c.343del (p.Glu115fs)
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NM_001368894.2(PAX6):c.347T>A (p.Ile116Asn)
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rs1565238322
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NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter)
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rs121907914
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NM_001368894.2(PAX6):c.34G>C (p.Gly12Arg)
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rs1565246499
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NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter)
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rs1554985305
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NM_001368894.2(PAX6):c.367_368delinsCAG (p.Glu123fs)
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rs1592542942
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NM_001368894.2(PAX6):c.367del (p.Glu123fs)
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rs1592543032
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NM_001368894.2(PAX6):c.372_373dup (p.Val125fs)
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rs1357628990
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NM_001368894.2(PAX6):c.373del (p.Val125fs)
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rs1357628990
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NM_001368894.2(PAX6):c.373dup (p.Val125fs)
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rs1357628990
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NM_001368894.2(PAX6):c.387_393dup (p.Pro132Ter)
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rs1592542343
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NM_001368894.2(PAX6):c.395del (p.Pro132fs)
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rs1131692301
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NM_001368894.2(PAX6):c.399+1G>A
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rs398123295
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NM_001368894.2(PAX6):c.399C>A (p.Ser133Arg)
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rs121907928
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NM_001368894.2(PAX6):c.399C>G (p.Ser133Arg)
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rs121907928
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NM_001368894.2(PAX6):c.399_399+5del
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rs1592542060
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NM_001368894.2(PAX6):c.3G>T (p.Met1Ile)
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rs1554986754
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NM_001368894.2(PAX6):c.400-1G>A
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rs1592532561
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NM_001368894.2(PAX6):c.400-2A>G
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rs1592532580
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NM_001368894.2(PAX6):c.407C>G (p.Ser136Ter)
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rs1554985100
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NM_001368894.2(PAX6):c.409_415del (p.Ile137fs)
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rs1131692302
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NM_001368894.2(PAX6):c.413del (p.Asn138fs)
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rs886041221
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NM_001368894.2(PAX6):c.415dup (p.Arg139fs)
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rs1592532169
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NM_001368894.2(PAX6):c.417_418del (p.Arg139fs)
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rs1592532084
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NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)
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rs121907918
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NM_001368894.2(PAX6):c.443del (p.Lys148fs)
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rs1131692303
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NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter)
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rs1131692304
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NM_001368894.2(PAX6):c.448C>T (p.Gln150Ter)
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rs121907912
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NM_001368894.2(PAX6):c.47_57del (p.Val16fs)
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rs1592564219
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NM_001368894.2(PAX6):c.491_495delinsCCGGAAC (p.Asn164fs)
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rs1131692305
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NM_001368894.2(PAX6):c.4del (p.Gln2fs)
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rs1592610205
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NM_001368894.2(PAX6):c.509G>A (p.Trp170Ter)
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rs1131692306
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NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)
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rs1554985028
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NM_001368894.2(PAX6):c.512_513insA (p.Thr172fs)
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rs1592530521
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NM_001368894.2(PAX6):c.517del (p.Arg173fs)
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rs1592530379
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NM_001368894.2(PAX6):c.531T>G (p.Tyr177Ter)
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rs1592530126
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NM_001368894.2(PAX6):c.533del (p.Pro178fs)
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rs1131692307
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NM_001368894.2(PAX6):c.537del (p.Thr180fs)
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rs1554984996
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NM_001368894.2(PAX6):c.542C>A (p.Ser181Ter)
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rs151086737
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NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter)
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rs1131692308
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NM_001368894.2(PAX6):c.566-14_567del
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rs1592435527
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NM_001368894.2(PAX6):c.566-1G>A
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rs1592435632
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NM_001368894.2(PAX6):c.566-2A>G
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rs1592435653
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NM_001368894.2(PAX6):c.569del (p.Gly190fs)
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rs1592435423
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NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter)
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rs1554983571
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NM_001368894.2(PAX6):c.62del (p.Leu21fs)
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rs1592564157
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NM_001368894.2(PAX6):c.632del (p.Asp210_Ser211insTer)
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rs1592434096
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NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)
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rs121907916
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NM_001368894.2(PAX6):c.66_75del (p.Asp23fs)
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rs1592564013
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NM_001368894.2(PAX6):c.677_680del (p.Arg226fs)
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rs1592433606
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NM_001368894.2(PAX6):c.682A>G (p.Arg228Gly)
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rs1592433545
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NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter)
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rs1131692309
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NM_001368894.2(PAX6):c.725-1G>C
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rs1131692310
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NM_001368894.2(PAX6):c.725-6T>A
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NM_001368894.2(PAX6):c.753_754del (p.Phe252fs)
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rs1592421398
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NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter)
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rs121907917
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NM_001368894.2(PAX6):c.767G>C (p.Arg256Thr)
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rs121907927
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NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly)
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rs121907913
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NM_001368894.2(PAX6):c.78del (p.Gln27fs)
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rs1131692286
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NM_001368894.2(PAX6):c.801_807del (p.Ile268fs)
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NM_001368894.2(PAX6):c.802del (p.Ile268fs)
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rs1131692312
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NM_001368894.2(PAX6):c.807G>C (p.Gln269His)
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rs1592420967
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NM_001368894.2(PAX6):c.808-1G>A
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rs1592416538
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NM_001368894.2(PAX6):c.808-1G>C
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rs1592416538
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NM_001368894.2(PAX6):c.812G>A (p.Trp271Ter)
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rs1592416453
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NM_001368894.2(PAX6):c.813G>A (p.Trp271Ter)
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rs121907929
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NM_001368894.2(PAX6):c.817dup (p.Ser273fs)
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rs1592416305
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NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
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rs886041222
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NM_001368894.2(PAX6):c.834del (p.Lys278fs)
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rs1131692313
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NM_001368894.2(PAX6):c.834dup (p.Trp279fs)
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rs1131692313
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NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)
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rs1131692314
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NM_001368894.2(PAX6):c.843del (p.Glu282fs)
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rs1592415958
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NM_001368894.2(PAX6):c.846del (p.Glu283fs)
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rs1592415868
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NM_001368894.2(PAX6):c.854_855del (p.Leu285fs)
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rs1592415745
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NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter)
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rs1554983229
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NM_001368894.2(PAX6):c.871C>T (p.Gln291Ter)
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rs1592415563
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NM_001368894.2(PAX6):c.889_890dup (p.Ser297fs)
|
rs1565200471
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NM_001368894.2(PAX6):c.921del (p.Ser308fs)
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rs1131692315
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|
NM_001368894.2(PAX6):c.951del (p.Thr318fs)
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rs1592414464
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NM_001368894.2(PAX6):c.956del (p.Pro319fs)
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rs2134588361
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NM_001368894.2(PAX6):c.958+1G>A
|
rs1057517783
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|
NM_001368894.2(PAX6):c.958+1G>C
|
rs1057517783
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NM_001368894.2(PAX6):c.958+1G>T
|
rs1057517783
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NM_001368894.2(PAX6):c.959-1G>A
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rs1592412022
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NM_001368894.2(PAX6):c.959-1G>C
|
rs1592412022
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|
NM_001368894.2(PAX6):c.967_968del (p.Phe323fs)
|
rs1592411896
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NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)
|
rs1057517785
|
|